227310
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR


TEXT
Rahim Adam et al. (1985) reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C (612283) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal.

REFERENCES
1. Rahim Adam, K. A., El Seed, F. A. R. A., Karrar, Z. A., Gader, A. M. A. Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor: a family study. Scand. J. Haemat. 34: 401-405, 1985. [PubMed: 2990022, related citations] [Full Text: Pubget]

Creation Date: Victor A. McKusick : 6/3/1986
Edit History: carol : 10/09/2008
mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/3/1986